المؤلفون: Raquel Fucho, Estel Solsona-Vilarrasa, Sandra Torres, Susana Nuñez, Naroa Insausti-Urkia, Albert Edo, Maria Calvo, Anna Bosch, Gemma Martin, Carlos Enrich, Carmen García-Ruiz, Jose C. Fernandez-Checa

المصدر: Journal of Lipid Research, Vol 64, Iss 8, Pp 100413- (2023)

مصطلحات موضوعية: mitochondria, cholesterol, oxidative stress, alcoholic-related liver disease, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S002222752300086X; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/a80cbd9789684781b60b96a0b071f59f

المؤلفون: Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)

مصطلحات موضوعية: ataxia, cerebellar atrophy, dysmorphic traits, early-onset cerebellar ataxia, CACNA1A gene, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/10/5180; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/557b2a1eecf64bdeb4c9274c77b0e7cf

المؤلفون: Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)

مصطلحات موضوعية: ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/19/2/619; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/fe935ff1b154463da302ead9af2340dd

المؤلفون: L. Carrera, Jordi Muchart, José M. Fernández-Fernández, Mercè Izquierdo-Serra, Loreto Martorell, Mercedes Serrano, Dídac Casas-Alba, Carlos Ortez, Mercè Bolasell, Andrés Nascimento, David Conejo, Antonio Martinez-Monseny, Albert Edo, Baldo Oliva

المصدر: International Journal of Molecular Sciences
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5180, p 5180 (2021)

مصطلحات موضوعية: 0301 basic medicine, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Ataxia, Prominent forehead, Nasal bridge, QH301-705.5, Catalysis, Article, Inorganic Chemistry, Malalties del sistema nerviós, Neurologia, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, medicine, Biology (General), Physical and Theoretical Chemistry, Hypertelorism, QD1-999, Molecular Biology, Spectroscopy, business.industry, Organic Chemistry, CACNA1A gene, Nervous system Diseases, General Medicine, medicine.disease, Phenotype, Computer Science Applications, Chemistry, 030104 developmental biology, Neurology, Cerebellar atrophy, Dysmorphic traits, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, Early-onset cerebellar ataxia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::720a7114d30688d11c0b07cf7d18ba8b
http://hdl.handle.net/10230/47763

المؤلفون: Mercè Izquierdo-Serra, Jaume Bertranpetit, Sandra Walsh, Albert Edo, José M. Fernández-Fernández, Elena Bosch, Baldo Oliva, Sandra Acosta, Roser Moret, María Lloret

المساهمون: European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Generalitat de Catalunya

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports

مصطلحات موضوعية: Adult, Male, Patch-Clamp Techniques, Adolescent, Evolution, Molecular biology, Physiology, Population, Biophysics, Fluorescent Antibody Technique, Receptors, Cell Surface, Biology, Polymerase Chain Reaction, Article, Transient receptor potential channel, Young Adult, Loss of Function Mutation, Extracellular, Genetics, Humans, Selection, Genetic, education, Receptor, Loss function, education.field_of_study, Multidisciplinary, Middle Aged, Cell biology, Electrophysiology, Structural biology, Amino Acid Substitution, Taste, Female, Calcium Channels, Ethiopia, Function (biology)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a67a5856ddfec01ff650fa5af1728a
http://hdl.handle.net/10261/236055